H6N (p.His6Asn) variant of AGRN (Agrin)
H6N (p.His6Asn) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H6N (p.His6Asn) variant details
- p.His6Asn
- gnomAD 1-1020188-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -1.01
- CADD 1.16
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available